Variant report

Variant	rs2383516
Chromosome Location	chr1:186653033-186653034
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186652649..186655604-chr1:186657308..186658935,2	MCF-7	breast:

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10798049	0.85[ASN][1000 genomes]
rs10911883	0.85[ASN][1000 genomes]
rs10911884	0.85[ASN][1000 genomes]
rs10911885	0.85[ASN][1000 genomes]
rs10911887	0.85[ASN][1000 genomes]
rs10911889	0.85[ASN][1000 genomes]
rs10911901	0.84[ASN][1000 genomes]
rs10911903	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911907	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911908	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911909	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911910	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10911911	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1119066	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1119230	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1119231	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11583191	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11584118	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585033	0.85[ASN][1000 genomes]
rs11585801	0.85[ASN][1000 genomes]
rs12057695	0.85[ASN][1000 genomes]
rs12061722	0.85[ASN][1000 genomes]
rs12062679	0.85[ASN][1000 genomes]
rs12064238	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12076624	0.84[ASN][1000 genomes]
rs12077211	0.85[ASN][1000 genomes]
rs12084433	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12085848	0.85[ASN][1000 genomes]
rs12089049	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089127	0.85[ASN][1000 genomes]
rs12097208	0.85[ASN][1000 genomes]
rs12401885	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12402766	0.85[ASN][1000 genomes]
rs12402797	0.85[ASN][1000 genomes]
rs12403185	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12405141	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12405541	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12405919	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12408222	0.85[ASN][1000 genomes]
rs12408912	0.85[ASN][1000 genomes]
rs12409744	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12410549	0.85[ASN][1000 genomes]
rs1474596	0.81[ASN][1000 genomes]
rs1569879	0.85[ASN][1000 genomes]
rs17520924	0.85[ASN][1000 genomes]
rs1997977	0.85[ASN][1000 genomes]
rs2038225	0.85[ASN][1000 genomes]
rs20417	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs20432	0.84[ASN][1000 genomes]
rs2066826	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2143416	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2143417	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2179555	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2383511	0.85[ASN][1000 genomes]
rs2383515	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2383529	0.84[ASN][1000 genomes]
rs28469836	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34975495	0.85[ASN][1000 genomes]
rs4422959	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4648250	0.96[ASN][1000 genomes]
rs4648276	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648306	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4648308	0.84[ASN][1000 genomes]
rs59665821	0.85[ASN][1000 genomes]
rs60203808	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61532952	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425033	0.85[ASN][1000 genomes]
rs66494422	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6665419	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6666199	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66850891	0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6685280	0.84[ASN][1000 genomes]
rs6690318	0.85[ASN][1000 genomes]
rs6698048	0.84[ASN][1000 genomes]
rs67143595	0.85[ASN][1000 genomes]
rs67203540	0.85[ASN][1000 genomes]
rs67362011	0.85[ASN][1000 genomes]
rs67607835	0.85[ASN][1000 genomes]
rs67804662	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68096880	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs689465	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72721517	0.85[ASN][1000 genomes]
rs72721521	0.85[ASN][1000 genomes]
rs72721544	0.85[ASN][1000 genomes]
rs72721568	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73052465	0.85[ASN][1000 genomes]
rs7512750	0.85[ASN][1000 genomes]
rs7522862	0.85[ASN][1000 genomes]
rs7533973	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7538407	0.85[ASN][1000 genomes]
rs7542810	0.85[ASN][1000 genomes]
rs7545438	0.85[ASN][1000 genomes]
rs7548600	0.85[ASN][1000 genomes]
rs964571	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9659276	0.85[ASN][1000 genomes]
rs9783017	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9783052	0.84[ASN][1000 genomes]
rs9804178	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv470750	chr1:186642429-186700959	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv548403	chr1:186642429-186700959	Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv466261	chr1:186652395-186742947	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv548405	chr1:186652395-186742947	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186651000-186653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:186651600-186657000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:186651800-186653400	Enhancers	Hela-S3	cervix
4	chr1:186652000-186653200	Enhancers	Osteobl	bone
5	chr1:186652400-186653200	Enhancers	HUVEC	blood vessel
6	chr1:186652600-186653200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:186652600-186653200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:186652800-186653200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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